ClinVar Miner

Submissions for variant NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) (rs1569234334)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab,Seattle Children's Research Institute RCV000779661 SCV000916342 likely pathogenic Corpus callosum, agenesis of; Multicystic kidney dysplasia; Mental retardation, X-linked 100; Hydrocephalus; Ventriculomegaly 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257990 SCV001434803 likely pathogenic Congenital cerebellar hypoplasia no assertion criteria provided research

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